5,10-Methylenetetrahydrofolate reductase (MTHFR) is the metabolic enzyme involved in conversion of homocysteine to methionine through the remethilation pathway. In fact, it catalizes the transformation of 5,10-Methylenetetrahydrofolate in 5-Methyltetrahydrofolate, which is the donor of methyl groups necessary for homocysteine remethilation to methionine, using vitamin B12 as a cofactor.
Besides these severe mutations, also some genetic polymorphisms (SNPs) have been identified, able to determine a less grave reduction of MTHFR enzymatic activity with clinical phenotype of medium hyperhomocysteinemia, especially with folic acid deficiency.
High levels of homocysteine are nowadays considered cerebrovascular risk factor (stroke), cardiovascular risk factor, (myocardial infarction) and venous thrombosis risk factors, maybe through a mechanism involving sulphidrilic groups of vessels endothelial walls. Two common polymorphisms (SNPs) have been described in MTHFR gene, both resulting in an aminoacidic substitution: C677T, determining Ala222Val, and A1298C, determining Glu429Ala. C677T reduces unequivocally the enzymatic function and has been associated to increased plasmatic concentrations of homocysteine and to an altered folates metabolism. Instead, functional in vivo relevance of A1298C variant is not well defined. A1298C reduces in vitro the enzymatic function of MTHFR at a less extent than C677T and subjects bearing this variant usually have normal serum concentrations of homocysteine and folates.
Some data suggest the heterozygous subjects mixed for the two mutations could have a clinical and laboratoristical history similar to homozygous C677T. Hyperhomocysteinemia has been shown in women presenting a situation of two or more miscarriages, placental infarction, fetal growth restriction. Homozygosity for C677T is an increased risk facror (2-3 fold) for neural tube defects (NTDs) such as anencephaly and bifid spine, while mixes heterozygosity for C677T and A1298C could also be a risk for NTDs.

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Screening test for: Genetic Thrombophilia

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